Diffuse jaw uptake. An unusual finding in neurofibromatosis

Neurofibromatosis (von Recklinghausen's disease) is a common congenital and familial disease involving multiple organs and systems. Skin lesions - cafe au lait spots and palpable neurofibromas of the peripheral nerves - are characteristic, as are bone and soft tissue abnormalities. Skeletal lesions in this disease are thought to be due to multiple pathological processes: mesodermal dysplasia, invasion of the periosteum by plexiform neuromas, and infiltration of bone by neurofibromatous tissue resulting in lacunar absorption of compact bone and widening of the haversion canals. Common skeletal lesions are scoliosis, kyphoscoliosis, congenital bowing, and pseudoarthrosis of long bones, as well as skull defects mainly in the orbital wall and posterior superior lambdoid suture. We describe a 31-year-old woman with an unusual diffuse jaw uptake on bone scintigraphy, in addition to multiple skeletal manifestations of neurofibromatosis.